J Med Genet -- Table of Contents (20 [1])

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February 1983 (Volume 20, Number 1). [Index by author]

		Articles Correspondence Articles Case Reports Research Article

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Articles

The effect of the acetylator phenotype on the metabolism of sulphasalazine in man
A K Azad Khan, M Nurazzaman, and S C Truelove
J Med Genet 1983; 20: 30-36. doi:10.1136/jmg.20.1.30 [Abstract] [PDF] [Request Permissions]

Acetylator phenotypes in Papua New Guinea
R J A Penketh, S F A Gibney, G T Nurse, and D A Hopkinson
J Med Genet 1983; 20: 37-40. doi:10.1136/jmg.20.1.37 [Abstract] [PDF] [Request Permissions]

Correspondence

Correspondence
A P Brooks and A E H Emery
J Med Genet 1983; 20: 77-78. doi:10.1136/jmg.20.1.77-a [PDF] [Request Permissions]

Case Reports

A new alopecia/mental retardation syndrome
M Baraitser, C O Carter, and E M Brett
J Med Genet 1983; 20: 64-65. doi:10.1136/jmg.20.1.64 [Abstract] [PDF] [Request Permissions]

A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?
M Baraitser, J Burn, and J Fixsen
J Med Genet 1983; 20: 65-67. doi:10.1136/jmg.20.1.65 [Abstract] [PDF] [Request Permissions]

Trisomy for 8p21 $->$ pter owing to a familial translocation
Elizabeth F Allen and William E Hodgkin
J Med Genet 1983; 20: 68-69. doi:10.1136/jmg.20.1.68 [Abstract] [PDF] [Request Permissions]

Research Article

The genetic status of mothers of isolated cases of Duchenne muscular dystrophy.
R J Lane, M Robinow, and A D Roses
J Med Genet 1983; 20: 1-11. doi:10.1136/jmg.20.1.1 [Abstract] [PDF] [Request Permissions]

Huntington's chorea in South Wales: mutation, fertility, and genetic fitness.
D A Walker, P S Harper, R G Newcombe, and K Davies
J Med Genet 1983; 20: 12-17. doi:10.1136/jmg.20.1.12 [Abstract] [PDF] [Request Permissions]

Investigation of malignant hyperthermia: analysis of skeletal muscle proteins from normal and halothane sensitive pigs by two dimensional gel electrophoresis.
P A Lorkin and H Lehmann
J Med Genet 1983; 20: 18-24. doi:10.1136/jmg.20.1.18 [Abstract] [PDF] [Request Permissions]

Phenotypic variation in the familial atypical multiple mole-melanoma syndrome (FAMMM).
H T Lynch, R M Fusaro, W A Albano, J Pester, W J Kimberling, and J F Lynch
J Med Genet 1983; 20: 25-29. doi:10.1136/jmg.20.1.25 [Abstract] [PDF] [Request Permissions]

Immunological tolerance induced by in utero injection.
R D Barnes, B E Pottinger, J Marston, P Flecknell, R H Ward, S Kalter, and R L Heberling
J Med Genet 1983; 20: 41-45. doi:10.1136/jmg.20.1.41 [Abstract] [PDF] [Request Permissions]

Chromosome changes in Alzheimer's presenile dementia.
K E Buckton, L J Whalley, M Lee, and J E Christie
J Med Genet 1983; 20: 46-51. doi:10.1136/jmg.20.1.46 [Abstract] [PDF] [Request Permissions]

Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome.
S Ohdo, K Hirayama, and T Terawaki
J Med Genet 1983; 20: 52-57. doi:10.1136/jmg.20.1.52 [Abstract] [PDF] [Request Permissions]

Consanguineous matings in the Egyptian population.
M Hafez, H El-Tahan, M Awadalla, H El-Khayat, A Abdel-Gafar, and M Ghoneim
J Med Genet 1983; 20: 58-60. doi:10.1136/jmg.20.1.58 [Abstract] [PDF] [Request Permissions]

Dissection of the aorta in Turner's syndrome.
W H Price and J Wilson
J Med Genet 1983; 20: 61-63. doi:10.1136/jmg.20.1.61 [Abstract] [PDF] [Request Permissions]

Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit?
J L García Miranda, A Otero Gómez, H Varela Ansedes, N Rancel Torres, C González Espinosa, C Cortabarría, and G Sánchez Salgado
J Med Genet 1983; 20: 69-72. doi:10.1136/jmg.20.1.69 [Abstract] [PDF] [Request Permissions]

Wildervanck's syndrome with bilateral subluxation of lens and facial paralysis.
P Strisciuglio, V Raia, A Di Meo, E Rinaldi, and G Andria
J Med Genet 1983; 20: 72-73. doi:10.1136/jmg.20.1.72 [Abstract] [PDF] [Request Permissions]

delta beta-Thalassaemia in Sicily: report of a case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia.
S Musumeci, M A Romeo, G Pizzarelli, G Schilirò, and G Russo
J Med Genet 1983; 20: 73-75. doi:10.1136/jmg.20.1.73 [Abstract] [PDF] [Request Permissions]

New mutations in Huntington's chorea.
S Bundey
J Med Genet 1983; 20: 76-77. doi:10.1136/jmg.20.1.76 [PDF] [Request Permissions]

Charcot-Marie-Tooth disease.
J J Heimans and D Lindhout
J Med Genet 1983; 20: 77-78. doi:10.1136/jmg.20.1.77 [PDF] [Request Permissions]

Evidence against a female specific class of neural tube defect.
F C Fraser, S R Maldoff, and A Lippman-Hand
J Med Genet 1983; 20: 78-79. doi:10.1136/jmg.20.1.78 [PDF] [Request Permissions]

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	The effect of the acetylator phenotype on the metabolism of sulphasalazine in man A K Azad Khan, M Nurazzaman, and S C Truelove J Med Genet 1983; 20: 30-36. doi:10.1136/jmg.20.1.30 [Abstract] [PDF] [Request Permissions]

	Acetylator phenotypes in Papua New Guinea R J A Penketh, S F A Gibney, G T Nurse, and D A Hopkinson J Med Genet 1983; 20: 37-40. doi:10.1136/jmg.20.1.37 [Abstract] [PDF] [Request Permissions]

	Correspondence A P Brooks and A E H Emery J Med Genet 1983; 20: 77-78. doi:10.1136/jmg.20.1.77-a [PDF] [Request Permissions]

	A new alopecia/mental retardation syndrome M Baraitser, C O Carter, and E M Brett J Med Genet 1983; 20: 64-65. doi:10.1136/jmg.20.1.64 [Abstract] [PDF] [Request Permissions]

	A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity? M Baraitser, J Burn, and J Fixsen J Med Genet 1983; 20: 65-67. doi:10.1136/jmg.20.1.65 [Abstract] [PDF] [Request Permissions]

	Trisomy for 8p21 $->$ pter owing to a familial translocation Elizabeth F Allen and William E Hodgkin J Med Genet 1983; 20: 68-69. doi:10.1136/jmg.20.1.68 [Abstract] [PDF] [Request Permissions]

	The genetic status of mothers of isolated cases of Duchenne muscular dystrophy. R J Lane, M Robinow, and A D Roses J Med Genet 1983; 20: 1-11. doi:10.1136/jmg.20.1.1 [Abstract] [PDF] [Request Permissions]

	Huntington's chorea in South Wales: mutation, fertility, and genetic fitness. D A Walker, P S Harper, R G Newcombe, and K Davies J Med Genet 1983; 20: 12-17. doi:10.1136/jmg.20.1.12 [Abstract] [PDF] [Request Permissions]

	Investigation of malignant hyperthermia: analysis of skeletal muscle proteins from normal and halothane sensitive pigs by two dimensional gel electrophoresis. P A Lorkin and H Lehmann J Med Genet 1983; 20: 18-24. doi:10.1136/jmg.20.1.18 [Abstract] [PDF] [Request Permissions]

	Phenotypic variation in the familial atypical multiple mole-melanoma syndrome (FAMMM). H T Lynch, R M Fusaro, W A Albano, J Pester, W J Kimberling, and J F Lynch J Med Genet 1983; 20: 25-29. doi:10.1136/jmg.20.1.25 [Abstract] [PDF] [Request Permissions]

	Immunological tolerance induced by in utero injection. R D Barnes, B E Pottinger, J Marston, P Flecknell, R H Ward, S Kalter, and R L Heberling J Med Genet 1983; 20: 41-45. doi:10.1136/jmg.20.1.41 [Abstract] [PDF] [Request Permissions]

	Chromosome changes in Alzheimer's presenile dementia. K E Buckton, L J Whalley, M Lee, and J E Christie J Med Genet 1983; 20: 46-51. doi:10.1136/jmg.20.1.46 [Abstract] [PDF] [Request Permissions]

	Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome. S Ohdo, K Hirayama, and T Terawaki J Med Genet 1983; 20: 52-57. doi:10.1136/jmg.20.1.52 [Abstract] [PDF] [Request Permissions]

	Consanguineous matings in the Egyptian population. M Hafez, H El-Tahan, M Awadalla, H El-Khayat, A Abdel-Gafar, and M Ghoneim J Med Genet 1983; 20: 58-60. doi:10.1136/jmg.20.1.58 [Abstract] [PDF] [Request Permissions]

	Dissection of the aorta in Turner's syndrome. W H Price and J Wilson J Med Genet 1983; 20: 61-63. doi:10.1136/jmg.20.1.61 [Abstract] [PDF] [Request Permissions]

	Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit? J L García Miranda, A Otero Gómez, H Varela Ansedes, N Rancel Torres, C González Espinosa, C Cortabarría, and G Sánchez Salgado J Med Genet 1983; 20: 69-72. doi:10.1136/jmg.20.1.69 [Abstract] [PDF] [Request Permissions]

	Wildervanck's syndrome with bilateral subluxation of lens and facial paralysis. P Strisciuglio, V Raia, A Di Meo, E Rinaldi, and G Andria J Med Genet 1983; 20: 72-73. doi:10.1136/jmg.20.1.72 [Abstract] [PDF] [Request Permissions]

	delta beta-Thalassaemia in Sicily: report of a case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia. S Musumeci, M A Romeo, G Pizzarelli, G Schilirò, and G Russo J Med Genet 1983; 20: 73-75. doi:10.1136/jmg.20.1.73 [Abstract] [PDF] [Request Permissions]

	New mutations in Huntington's chorea. S Bundey J Med Genet 1983; 20: 76-77. doi:10.1136/jmg.20.1.76 [PDF] [Request Permissions]

	Charcot-Marie-Tooth disease. J J Heimans and D Lindhout J Med Genet 1983; 20: 77-78. doi:10.1136/jmg.20.1.77 [PDF] [Request Permissions]

	Evidence against a female specific class of neural tube defect. F C Fraser, S R Maldoff, and A Lippman-Hand J Med Genet 1983; 20: 78-79. doi:10.1136/jmg.20.1.78 [PDF] [Request Permissions]